"Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with "-Results of a Patient and Parent-Oriented Survey.

Osteogenesis Imperfecta (OI) is a rare genetic disorder in Type I collagen characterized by bone fractures, fragility, and deformity. Current treatments are focused on decreasing fracture rates, improving bone strength, and improving overall global function. Recent research has focused primarily on fracture fixation and outcomes of intramedullary rodding of long bones. While surgical techniques continue to evolve, recent trends in OI research are focusing on patient quality of life and patient-reported outcomes. We created a 12-question survey seeking information regarding aspects of orthopedic care that OI patients and families feel are the most pressing to improve. The survey was electronically administered, and 341 individuals participated. A total of 75% of respondents who answered the age question (254/335) were adults. Regarding surgical intervention for long bones, only 16% of respondents recall being told they could not have surgery because they were too young. Of the 16%, 37.8% were told that <5 years was too young, 13.4% <4 years was too young, and 48.8% <3 years of age was too young for surgical intervention for fractures or deformities. Nearly 22% of respondents were told that their bones were too small for intramedullary fixation. The patient and family responses help elucidate the topics requiring focus for the improvement of OI orthopedic care. Patient concerns and insights should drive the research questions we ask to advance the orthopedic care of OI patients.

Extensor Mechanism Ruptures and Reruptures: Perioperative Opioid Management.

The purpose of this study was to determine (1) the correlation between preoperative and postoperative opioid use and (2) risk factors associated with rerupture in patients undergoing open extensor mechanism repair. A retrospective review of patients who underwent operative repair of quadriceps or patellar tendon rupture was performed. Patients were classified as opioid nonusers if they had not received any opioid medications in the 3 months before surgery, or as acute users or chronic users if they received at least one opioid prescription within 1 month or 3 months preceding surgery. Clinical records were reviewed for postoperative opioid use within a year after surgery as well as rerupture rates. A total of 144 quadriceps tendon and 15 patellar tendon repairs were performed at a mean age of 56.8 ± 15.1 years and body mass index of 33.2 ± 7.1. The overall rerupture rate was 6%. Diabetes was a significant risk factor for rerupture (56 vs. 19%, p = 0.023). Chronic preoperative opioid users were more likely to continue to use opioids beyond 1 month postoperatively (p < 0.001) as compared with acute or nonopioid users. Chronic preoperative opioid users (relative risk [RR]: 3.53, 95% confidence interval [CI]: 2.11-5.90) and patients with longer anesthesia time (RR: 1.39, 95% CI: 1.00-1.93) required more monthly opioid refills, whereas tourniquet use required fewer opioid refills each month (RR: 0.57, 95% CI: 0.37-0.88). Compared with patients without a rerupture, each additional prescription refill after the initial repair in the rerupture group was associated with a 22% higher risk of tendon rerupture (RR: 1.22, 95% CI: 1.07-1.39). The chronicity of preoperative opioid intake was found to have a significant effect on postoperative opioid use. This study suggests that there is a higher prevalence of rerupture in patients with prolonged opioid use postoperatively and among diabetics.

Naturalistic Topography Assessment in a Randomized Clinical Trial of Smoking Unfiltered Cigarettes: Challenges, Opportunities, and Recommendations.

Smoking topography (ST) is a set of measures profiling the behavioral characteristics of smoking in various settings. The CReSS portable device can measure ST in the natural environment. No standard protocol exists for measuring ST longitudinally with the CReSS. This study examined the utilization of the CReSS to measure ST and highlights challenges and opportunities in a naturalistic setting. This study is part of a randomized cross-over clinical trial of smoking filtered or unfiltered cigarettes. Participants (n = 43) smoked in each study condition for two weeks using the CReSS device for five days in their naturalistic smoking setting. The devices were calibrated and cleaned during the washout period, and data were downloaded every visit. Five test puffs were administered to calibrate each device. Moderate compliance rates (74.1%) were found with device usage, and the issues encountered were overheating/clogging, incorrectly registered date/time-stamped data, and device repair/replacement. Routine inspection/cleaning and training in device usage were instrumental in mitigating device malfunctioning. The CReSS device proved to be a feasible tool to examine naturalistic smoking topography and the potential impact of changes in tobacco product design on smoking unfiltered cigarettes. This is the first study to examine ST variables longitudinally, measured at multiple time points, and using unfiltered cigarettes.

Effects of Unfiltered Cigarettes on Smoking Behavior and Toxicant Exposure: Protocol for a Randomized Crossover Clinical Trial.

BACKGROUND: Plastic filters on cigarette butts are a widespread source of nonbiodegradable, toxic environmental waste. State and local legislation to ban the sale of single-use cigarettes may be considered to prevent this waste, but scientific evidence on the impact of switching smokers to unfiltered cigarettes on smoking behavior and toxicant exposures is needed to inform this policy. We have designed an open-label, randomized, 9-week, crossover clinical trial of adult filtered-cigarette smokers who switch to unfiltered cigarettes. OBJECTIVE: Our objective is to understand the impact of switching smokers of filtered cigarettes to unfiltered cigarettes on smoking behavior and toxic exposures. METHODS: This trial involves a 1-week baseline period; a 2-week period of smoking filtered or unfiltered cigarettes, where groups are randomly assigned; a 3-week washout period; another 1-week baseline period; and a 2-week crossover period of smoking the opposite condition (ie, filtered or unfiltered cigarettes) for a sufficient sample size of 40 participants. We will determine changes in (1) observed topography (ie, puff count, interpuff interval, and puff volume) and cigarettes smoked per day, via butt counts and self-report, (2) expired carbon monoxide and excretion of urinary cotinine, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol, and volatile organic compounds, and (3) participants' knowledge and attitudes toward unfiltered cigarettes, satisfaction with smoking, and intention to quit if they were not able to smoke filtered cigarettes. RESULTS: This study was funded in June 2018 and approved by the relevant Institutional Review Boards in July 2018. This study has enrolled 37 participants as of October 2020. Data analysis is currently underway, and trial results are expected to be published in spring 2021. CONCLUSIONS: This pilot proof-of-principle study will inform the design of a larger, future research project that can provide robust scientific evidence on our research question. Such a large study could inform possible state or local legislation to ban the sale of single-use filtered cigarettes in order to mitigate the environmental impact of discarded single-use plastic filters. TRIAL REGISTRATION: ClinicalTrials.gov NCT03749876; https://clinicaltrials.gov/ct2/show/NCT03749876. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/19603.

Consequences of chromsome18q deletions.

Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions. Because of this heterogeneity, we take a gene by gene approach to understanding the clinical consequences. There are 196 genes on 18q. We classified 133 of them as dosage insensitive, 15 (8%) as dosage sensitive leading to haploinsufficiency while another 10 (5%) have effects that are conditionally haploinsufficient and are dependent on another factor, genetic or environmental in order to cause an abnormal phenotype. Thirty-seven genes (19%) have insufficient information to classify their dosage effect. Phenotypes attributed to single genes include: congenital heart disease, minor bone morphology changes, central nervous system dysmyelination, expressive speech delay, vesicouretreral reflux, polyposis, Pitt-Hopkins syndrome, intellectual disability, executive function impairment, male infertility, aural atresia, and high frequency sensorineural hearing loss. Additionally, identified critical regions for other phenotypes include: adolescent idiopathic scoliosis and pectus excavatum, Virchow-Robin perivascular spaces, small corpus callosum, strabismus, atopic disorders, mood disorder, IgA deficiency, nystagmus, congenital heart disease, kidney malformation, vertical talus, CNS dysmyelination growth hormone deficiency and cleft palate. Together these findings make it increasingly feasible to compile an individualized syndrome description based on each person's individuated genotype. Future work will focus on understanding molecular mechanisms leading to treatment.